The UMD-MLH1 mutations database
Mutations involving exon 4

    Request ID: 18281655185

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
1_1558del	c.1_1558del	1		p.Met1?		Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 476 19_8079_8079-001_8079-001 Causal - 19
1_2271del	c.1_2271del	1		p.Met1?		Causal	French MMR network	14/02/14	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 107 4_H-JCS0506_18317_1299 Causal - 4 376 8_32347_B042705_04-1856 Causal - 8 479 19_9340_9340-001_9340-001 Causal - 19 480 19_9776_9776-001_9776-001 Causal - 19 481 19_9340_9340-002_9340-002 Causal - 19 482 19_10381_10381-001_10381- Causal - 19 483 19_9340_9340-003_9340-003 Causal - 19 484 19_10381_10381-004_10381- Causal - 19 485 19_9340_9340-004_9340-004 Causal - 19 486 19_9340_9340-005_9340-005 Causal - 19 2525 SO_-5158---G07855 Causal - 71
1_380del	c.1_380del	1		p.Met1?		Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 345 6_609108_20102062_S0589 Causal - 6
1_453del	c.1_453del	1		p.Met1?		Causal	French MMR network	14/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 487 19_7623_7623-001_7623-001 Causal - 19 488 19_7623_7623-002_7623-001 Causal - 19 489 19_7623_7623-003_7623-003 Causal - 19
117_545del	c.117_545del	1-2		p.Cys39_Arg182delinsTrp	ATPase	Causal	French MMR network	14/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 533 19_7725_7725-001_7725-001 Causal - 19 534 19_7725_7725-002_7725-002 Causal - 19 535 19_7725_7725-006_7725-006 Causal - 19 536 19_7725_7725-007_7725-007 Causal - 19 537 19_7725_7725-008_7725-008 Causal - 19 538 19_12962_12962-001_12962- Causal - 19
208_2271del	c.208_2271del	3		p.Lys70ValfsX3	ATPase	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 52 2_02-DDM3127_19588_--- Causal - 2
307G>C	c.307G>C	4		p.Ala103Pro	ATPase	Causal	French MMR network	31/05/07	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 415 8_F391_B001183_G2-Nç145 Causal - 8 416 8_F391_B002210_G3-Nç210 Causal - 8 417 8_F391_B031800 _G1-Nç73 Causal - 8 418 8_F391_B031802_G1-Nç75 Causal - 8 419 8_F391_B031801_G2-Nç106 Causal - 8 420 8_F391_B031799_G2-Nç112 Causal - 8 421 8_45903_84784_08-004031EG Causal - 8 2214 SO_-557---G01461 Causal - 71
307_380del	c.307_380del	4		p.Ala103SerfsX13	ATPase	Causal	French MMR network	14/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 640 19_9400_9400-002_9400-002 Causal - 19 641 19_9400_9400-001_9400-001 Causal - 19 3012 5_20141632013007173AAI922 Causal - 5
307_453del	c.307_453del	4		p.Ala103_Thr151del	ATPase	Causal	French MMR network	14/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 209 4_C00156_17906_520 Causal - 4 646 19_7426_7426-001_7426-001 Causal - 19 647 19_7426_7426-002_7426-002 Causal - 19 2695 37_L13.072-E22766140768 Causal - 37 2980 37_L13.072-E29999167544 Causal - 37
311delT	c.311delT	4		p.Leu104TrpfsX4	ATPase	Causal	French MMR network	14/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 362 6_612165_201202154_S 6696 Causal - 6 422 8_F475_B011946_G5-Nç371 Causal - 8 423 8_F475_B032700_G2-Nç144 Causal - 8 898 31_H354_H354-1_H354-1A Causal - 31 899 31_H354_H354-7_H354-7A Causal - 31 900 31_H354_H354-7_H354-7B Causal - 31
318C>A	c.318C>A	4		p.Ser106Arg	ATPase	UV	French MMR network	28/04/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 210 4_96058_---_207 UV - 4 3041 4_96058248883154 UV - 4
332C>A	c.332C>A	4		p.Ala111Asp	ATPase	UV	French MMR network	9/03/08	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1094 37_L08.06-E_4077_--- UV - 37 1095 37_L08.006-E_4077_--- UV - 37
332C>T	c.332C>T	4		p.Ala111Val	ATPase	Likely Causal	French MMR network	22/05/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2874 08_446908035408234121EGS Likely Causal - 8
338T>A	c.338T>A	4		p.Val113Asp	ATPase	Likely Causal	French MMR network	26/09/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 211 4_96147_---_400 Likely Causal - 4
340dup	c.340dup	4		p.Thr114AsnfsX8	ATPase	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1804 7_-60914528E051208 Causal - 7
340_341dup	c.340_341dup	4		p.Ile115LeufsX22	ATPase	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1801 7_-6091---E051208 Causal - 7
347C>A	c.347C>A	4		p.Thr116Lys	ATPase	UV	French MMR network	31/05/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1984 7_52995448E060787 UV - 7 3035 20_20-48494849-01--- UV - 20
350C>T	c.350C>T	4		p.Thr117Met	HhH & pseudo-HhH	Causal	French MMR network	1/07/14	55
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3059 8_444247938008-387021 Causal - 8 67 2_02-SG624-Cochin_1898_-- Causal - 2 68 2_02-ACT2480_17109_--- Causal - 2 213 4_C96070_---_61 Causal - 4 214 4_C99139_---_--- Causal - 4 215 4_Re-017_---_--- Causal - 4 216 4_Re-0194_---_--- Causal - 4 424 8_44103_76078_08-638211EG Causal - 8 649 19_4123_4123-001_4123-001 Causal - 19 650 19_3484_3484-001_3484-001 Causal - 19 651 19_7577_7577-001_7577-001 Causal - 19 652 19_3484_3484-003_3484-003 Causal - 19 653 19_15152_15152-001_15152- Causal - 19 901 31_H213_H213_1_H213_1_A Causal - 31 902 31_H815_H815-1_H815-1A Causal - 31 903 31_H815_H815-1_H815-1B Causal - 31 975 33_PSL 835__06-1195 Causal - 33 1200 SO_-272---684 Causal - 71 1201 SO_-272---693 Causal - 71 1691 7_48973975E050519 Causal - 7 2053 7_6102E2K031 Causal - 7 2217 SO_-576---G01465 Causal - 71 2279 SO_-272---G03113 Causal - 71 2331 SO_-576---G04364 Causal - 71 2332 SO_-576---G04368 Causal - 71 2333 SO_-576---G04371 Causal - 71 2457 SO_-4556---G06808 Causal - 71 2480 SO_-576---G07184 Causal - 71 2528 SO_-5161---G07859 Causal - 71 2875 19_254492544900125449001 Causal - 19 2876 19_233082330800123308001 Causal - 19 2877 19_233082330800323308003 Causal - 19 2878 19_233082330800423308004 Causal - 19 2879 19_221472214700122147001 Causal - 19 2880 19_151521515200115152001 Causal - 19 2881 19_151521515200315152003 Causal - 19 2882 19_757775770017577001 Causal - 19 2883 19_757775770027577002 Causal - 19 2884 19_412341230014123001 Causal - 19 2885 19_642864280016428001 Causal - 19 2886 19_642864280026428002 Causal - 19 2887 19_642864280036428003 Causal - 19 2888 19_642864280066428006 Causal - 19 2889 19_348434840013484001 Causal - 19 2890 19_348434840033484003 Causal - 19 2891 19_348434840043484004 Causal - 19 2892 19_348434840053484005 Causal - 19 2893 19_348434840063484006 Causal - 19 2933 4_JCS1408334484965 Causal - 4 2951 19_2544925449-00925449-009 Causal - 19 2952 19_2544925449-00825449-008 Causal - 19 2953 19_2544925449-01025449-010 Causal - 19 2981 37_L14.010-E21624153650 Causal - 37 3043 19_2544925449-01125449-011 Causal - 19 3055 8_444249574408-978241 Causal - 8
354A>T	c.354A>T	4		p.Lys118Asn	ATPase	Likely Causal	French MMR network	26/09/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2348 SO_-3646---G04972 Likely Causal - 71
375A>G	c.375A>G	4		p.Ala125Ala	ATPase	Neutral	French MMR network	16/06/08	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 327 5_2003197_20033751_AAA324 Neutral - 5 328 5_2010395_20103630_AAE391 Neutral - 5 904 31_H184_H184_1_H184_1_A Neutral - 31 976 33_PSL 241__05-299 Neutral - 33 1598 7_-5801---E041035 Neutral - 7 1600 7_-58012957E041035 Neutral - 7 2287 SO_-3060---G03182 Neutral - 71 2341 SO_-3607---G04798 Neutral - 71 2493 SO_-4894---G07411 Neutral - 71
376T>A	c.376T>A	4		p.Tyr126Asn	ATPase	UV	French MMR network	31/05/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 654 19_4538_4538-001_4538-001 UV - 19 1824 7_43754656E051425 UV - 7
378delC	c.378delC	4		p.Tyr126X	ATPase	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 217 4_C98025_---_159 Causal - 4
380G>A	c.380G>A	4-5		p.Arg127Lys	ATPase	UV	French MMR network	20/09/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 220 4_SE0904_23376_2785 UV - 4
380G>C	c.380G>C	4-5		p.Arg127Thr	ATPase	Causal	French MMR network	16/06/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 365 6_607124_200702522_S3180 Causal - 6